Variant #0000001007 (NC_000020.10:g.4680050_4680073del24, PRNP(NM_000311.3):c.184_207del24)

Individual ID 00001007
Chromosome 20
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.4680050_4680073del24
Reference Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993)
DB-ID PRNP_000038
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
PRNP NM_000311.3 ./. 2 c.184_207del24 r.(?) p.(Pro84_Gln91del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001007 ? ? PRNP 1 Y Yang